ID   STBCi035-A
AC   CVCL_RC08
SY   SFC813-03-09
DR   BioSamples; SAMEA104493687
DR   EBiSC; STBCi035-A
DR   ECACC; 66540717
DR   hPSCreg; STBCi035-A
DR   Wikidata; Q54956448
CC   From: StemBANCC; Oxford; United Kingdom.
CC   Sequence variation: Mutation; HGNC; 10597; SCN9A; Simple; p.Leu869Phe (c.2605C>T) (p.Leu858Phe, c.2572C>T); ClinVar=VCV000006364; Zygosity=Heterozygous (EBiSC=STBCi035-A).
CC   Discontinued: ECACC; 66540717; true.
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C125383; Primary erythromelalgia
DI   ORDO; Orphanet_90026; Primary erythromelalgia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_RC09 ! STBCi035-B
OI   CVCL_RC10 ! STBCi035-C
SX   Female
AG   35-39Y
CA   Induced pluripotent stem cell
DT   Created: 05-03-18; Last updated: 30-01-24; Version: 12
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